Canonical Allele Identifier: CA10645532
Gene: NIPA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 315405
ClinVar RCV Id: RCV000303318
dbSNP Id: rs1059774
gnomAD v2: 15-23047702-G-C
gnomAD v3: 15-22825366-C-G
gnomAD v4: 15-22825366-C-G
MyVariant Identifiers: chr15:g.23047702G>C (hg19) chr15:g.22825366C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.22825366C>G , CM000677.2:g.22825366C>G GRCh38
NC_000015.9:g.23047702G>C , CM000677.1:g.23047702G>C GRCh37
NC_000015.8:g.20599143G>C NCBI36
NG_009056.1:g.44142C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000337435.9:c.*1127C>G MANE Select ENSP00000337452.4:n.*1127C>G
ENST00000337435.8:c.*1127C>G ENSP00000337452.4:n.*1127C>G
ENST00000437912.6:c.*1127C>G ENSP00000393962.2:n.*1127C>G
ENST00000559448.5:c.2089C>G
NM_001142275.1:c.*1127C>G NP_001135747.1:n.*1127C>G
NM_144599.4:c.*1127C>G NP_653200.2:n.*1127C>G
NM_144599.5:c.*1127C>G MANE Select NP_653200.2:n.*1127C>G
Search 100 bp 5'
Search 100 bp 3'